Incidental Mutation 'R8277:Entr1'
| ID |
638011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entr1
|
| Ensembl Gene |
ENSMUSG00000026927 |
| Gene Name |
endosome associated trafficking regulator 1 |
| Synonyms |
C330016H24Rik, Sdccag3, C630038K21Rik |
| MMRRC Submission |
067700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26272814-26279328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26274778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 373
(A373V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000035427]
[ENSMUST00000076431]
[ENSMUST00000077983]
[ENSMUST00000114093]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000114115]
[ENSMUST00000139738]
|
| AlphaFold |
A2AIW0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028293
AA Change: A323V
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927
AA Change: A323V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
209 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035427
|
| SMART Domains |
Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
coiled coil region
|
93 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
212 |
N/A |
INTRINSIC |
|
SANT
|
219 |
290 |
2.37e1 |
SMART |
|
SANT
|
293 |
343 |
4.38e-10 |
SMART |
|
SANT
|
345 |
397 |
3.05e-9 |
SMART |
|
SANT
|
400 |
449 |
8.24e-15 |
SMART |
|
SANT
|
452 |
501 |
7.8e-16 |
SMART |
|
low complexity region
|
516 |
547 |
N/A |
INTRINSIC |
|
Blast:SANT
|
550 |
753 |
1e-23 |
BLAST |
|
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076431
|
| SMART Domains |
Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
4.5e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
430 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077983
AA Change: A300V
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927
AA Change: A300V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
186 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114093
|
| SMART Domains |
Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
1.6e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
420 |
9.6e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114100
AA Change: A350V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927
AA Change: A350V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
236 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114102
AA Change: A373V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927
AA Change: A373V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
259 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114115
|
| SMART Domains |
Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
101 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
SANT
|
227 |
298 |
2.37e1 |
SMART |
|
SANT
|
301 |
351 |
4.38e-10 |
SMART |
|
SANT
|
353 |
405 |
3.05e-9 |
SMART |
|
SANT
|
408 |
457 |
8.24e-15 |
SMART |
|
SANT
|
460 |
509 |
7.8e-16 |
SMART |
|
low complexity region
|
524 |
555 |
N/A |
INTRINSIC |
|
Blast:SANT
|
558 |
761 |
1e-23 |
BLAST |
|
low complexity region
|
901 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1177 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139738
|
| SMART Domains |
Protein: ENSMUSP00000121256
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
| Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
| Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
| Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
| Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
| Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
| Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
| Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
| Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
| Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
| Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
| Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
| Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Entr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02480:Entr1
|
APN |
2 |
26,275,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03293:Entr1
|
APN |
2 |
26,277,688 (GRCm39) |
splice site |
probably benign |
|
|
R0385:Entr1
|
UTSW |
2 |
26,277,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1707:Entr1
|
UTSW |
2 |
26,277,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Entr1
|
UTSW |
2 |
26,273,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Entr1
|
UTSW |
2 |
26,278,655 (GRCm39) |
intron |
probably benign |
|
|
R3977:Entr1
|
UTSW |
2 |
26,274,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4592:Entr1
|
UTSW |
2 |
26,278,909 (GRCm39) |
unclassified |
probably benign |
|
|
R5389:Entr1
|
UTSW |
2 |
26,275,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Entr1
|
UTSW |
2 |
26,276,983 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6030:Entr1
|
UTSW |
2 |
26,276,983 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6381:Entr1
|
UTSW |
2 |
26,275,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9729:Entr1
|
UTSW |
2 |
26,278,645 (GRCm39) |
missense |
unknown |
|
|
R9752:Entr1
|
UTSW |
2 |
26,276,990 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTATTAGTGGGAAGGTTCTCTG -3'
(R):5'- AGTGTAAGCCAAGCACAGCG -3'
Sequencing Primer
(F):5'- AGGTCAGCCTAGTGTACATAGCTC -3'
(R):5'- GTTGTACATTTAAGGCCAGCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation